Submissions for variant NM_198428.3(BBS9):c.1648A>G (p.Ile550Val)

gnomAD frequency: 0.00219  dbSNP: rs150399299

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175110	SCV000226540	benign	not specified	2015-03-02	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514864	SCV000609762	likely benign	not provided	2017-05-04	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625094	SCV000743767	benign	Bardet-Biedl syndrome 1	2015-08-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084942	SCV001002685	likely benign	Bardet-Biedl syndrome	2025-01-27	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000175110	SCV002069885	likely benign	not specified	2021-03-31	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000514864	SCV005226683	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000625094	SCV000745831	likely benign	Bardet-Biedl syndrome 1	2017-04-19	no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000514864	SCV001970547	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003975280	SCV004795992	benign	BBS9-related disorder	2019-09-19	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).